Fetal hemoglobin and alpha thalassemia modulate the phenotypic expression of Hb<scp>SD</scp>‐Punjab

Patel, Dilip Kumar; Purohit, Prasanta; Dehury, Snehadhini; Das, Padmalaya; Dutta, Ambarish; Meher, Satyabrata; Patel, Siris; S, Bag; Mashon, Ranjeet Singh; Das, Kunal

doi:10.1111/ijlh.12165

Cited by 14 publications

(15 citation statements)

References 29 publications

(30 reference statements)

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“…This clinical course is similar to that observed in children with homozygous Hb SS disease as has already been reported in other studies 10, 11, 16, 17, 25. Oberoi et al evaluated ten patients aged between 1 and 19 years.…”

Section: Discussionsupporting

confidence: 87%

“…This association has been described in patients with Hb SS disease and has been explained by the fact that red blood cells with larger quantities of Hb F possess lower levels of Hb S; therefore, they have a lower chance of sickling, and as a result, a lower probability of experiencing clinical manifestations 28 . Patel et al found higher Hb F concentrations to be associated with a lower frequency of acute pain crises in the 42 patients with Hb S/D-Punjab disease 25 . Meanwhile, three other studies failed to find this association; however, they did include much smaller sample populations than Patel et al The other studies included five, nine, and 15 patients, respectively 9, 10, 17…”

Section: Discussionmentioning

confidence: 99%

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Clinical, hematological and genetic data of a cohort of children with hemoglobin SD

Rezende

Costa

Domingues

et al. 2016

Revista Brasileira de Hematologia e Hemoterapia

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IntroductionThe hemoglobin FSD is very uncommon in newborn screening programs for sickle cell disease. In the program of Minas Gerais, Brazil, the clinical course of children with hemoglobin SD was observed to be heterogeneous. The objective of this study was to estimate the incidence (1999–2012) and to describe the natural history of a cohort of newborns with hemoglobin SD.MethodsIsoelectric focusing was the primary method used in newborn screening. Polymerase chain reaction-restriction fragment length polymorphism and gene sequencing were used to identify mutant alleles and for haplotyping. Gap-polymerase chain reaction was used to detect alpha-thalassemia.ResultsEleven cases of hemoglobin S/D-Punjab and eight of Hb S-Korle Bu were detected. Other variants with hemoglobin D mobility were not identified. All hemoglobin D-Punjab and hemoglobin Korle Bu alleles were associated with haplotype I. Among the children with hemoglobin S/D-Punjab, there were four with the βS CAR haplotype, six with the Benin haplotype, and one atypical. Results of laboratory tests for hemoglobin S/D-Punjab and hemoglobin S-Korle Bu were: hemoglobin 8.0 and 12.3 g/dL (p-value <0.001), leukocyte count 13.9 × 109/L and 10.5 × 109/L (p-value = 0.003), reticulocytes 7.5% and 1.0% (p-value <0.001), hemoglobin F concentration 16.1% and 6.9% (p-value = 0.001) and oxygen saturation 91.9% and 97% (p-value = 0.002), respectively. Only hemoglobin S/D-Punjab children had acute pain crises and needed blood transfusions or hydroxyurea. Those with the Benin βS haplotype had higher total hemoglobin and hemoglobin F concentrations compared to the CAR haplotype. Transcranial Doppler was normal in all children.ConclusionThe clinical course and blood cell counts of children with hemoglobin S/D-Punjab were very similar to those of hemoglobin SS children. In contrast, children with hemoglobin S-Korle Bu had clinical course and blood cell counts like children with the sickle cell trait.

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Section: Discussionsupporting

confidence: 87%

Section: Discussionmentioning

confidence: 99%

Clinical, hematological and genetic data of a cohort of children with hemoglobin SD

Rezende

Costa

Domingues

et al. 2016

Revista Brasileira de Hematologia e Hemoterapia

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“…A severidade clínica depende também da expressão fenotípica da hemoglobina variante. 9,15,16,17 A hemoglobinopatia SD foi descrita pela primeira vez em 1966 em um homem com caracterís-ticas caucasoides que tinha diagnóstico de anemia falciforme (Hb SS). 18 …”

Section: Resultadounclassified

Hemoglobinopathy SD presenting as Hemoglobinopathy SS

Lissa¹,

Bach²,

Spezia³

et al. 2017

Medicina (Ribeirão Preto)

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RESUMOEste relato de caso mostra a interação da hemoglobina (Hb) S com a Hb D de uma criança que foi previamente diagnosticada como anemia falciforme (Hb SS) devido ao seu padrão de migração da eletroforese em pH alcalino. O fenômeno de falcização foi confirmado com 2% de metabissulfito de ABSTRACTThis case report shows the interaction of hemoglobin (Hb) S with Hb D. in a child previously diagnosed with sickle cell anemia based on the Hb electrophoretic migration pattern in alkaline pH. The sickling phenomenon was confirmed with 2% sodium metabisulfite. The father and mother of the child had a heterozygous pattern (Hb AS) in hemoglobin electrophoresis at alkaline pH. The sickling phenomenon has been confirmed to the father, but it has not been confirmed for the mother. The electrophoresis at acid pH was used to differentiate Hb S from Hb D. The family's phenotype was established: the father has Hb AS, the mother AD and, the child SD. The purpose of this study was to emphasize the importance of confirmation of Hb S detected in electrophoresis at alkaline pH, with the solubility test or 2% sodium metabisulfite and with the electrophoresis at acid pH.

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“…Researchers from India and the Middle East are the main authors of the few papers about Hb SD-Punjab; there are less data published about the association Hb S-Hb KB 21, 27, 28, 29, 34, 36, 37, 38, 39, 40, 41. By studying two different groups of patients with Hb SD patterns, specifically Hb SD-Punjab and Hb S-Hb KB, Rezende et al not only published important clinical data about the coinheritance of two rare Hb but also pointed out the importance of this differential diagnosis 15 …”

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confidence: 99%

Comments on: “Clinical, hematological and genetic data of a cohort of children with hemoglobin SD”

Figueiredo

2016

Revista Brasileira de Hematologia e Hemoterapia

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Fetal hemoglobin and alpha thalassemia modulate the phenotypic expression of HbSD‐Punjab

Abstract: HbF reduced the frequency of VOC but had no influence on the hemolytic markers in HbSD. HbSD with alpha thalassemia was associated with hypohromic and microcytic features of red blood cells.

Cited by 14 publications

References 29 publications

Clinical, hematological and genetic data of a cohort of children with hemoglobin SD

Clinical, hematological and genetic data of a cohort of children with hemoglobin SD

Hemoglobinopathy SD presenting as Hemoglobinopathy SS

Comments on: “Clinical, hematological and genetic data of a cohort of children with hemoglobin SD”

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